Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
tubulin beta 4A class IVa 0.608 0.615 0.11
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 1.000 1 1 2014 2014
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
transport and golgi organization 2 homolog 0.666 0.615 1.5E-04
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 1
Entrez Id: 6509
Gene Symbol: SLC1A4
SLC1A4
solute carrier family 1 member 4 0.700 0.385 6.6E-02
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 1
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 2
Entrez Id: 8573
Gene Symbol: CASK
CASK
calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 1
Entrez Id: 8726
Gene Symbol: EED
EED
embryonic ectoderm development 0.588 0.615 1.00
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 1
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
lysine methyltransferase 2E 0.682 0.423 1.00
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 2
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
MAGE family member L2 0.560 0.654 0.98
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 1
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
orthodenticle homeobox 2 0.514 0.808 0.92
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 1
Entrez Id: 400958
Gene Symbol: LINC02245
LINC02245
long intergenic non-protein coding RNA 2245 0.821 0.231
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 1
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
laminin subunit alpha 2 0.553 0.692 2.4E-47
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 1
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 1
Entrez Id: 283989
Gene Symbol: TSEN54
TSEN54
tRNA splicing endonuclease subunit 54 0.659 0.500 1.8E-07
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 1
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
lysine methyltransferase 2B 0.529 0.808 1.00
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype 0.100 None 0 1